Identification of genetic variants for clinical management of familial colorectal tumors

Identification of genetic variants for clinical management of familial colorectal tumors

Abstract Background The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed to study the potential contribution of genes other than MMR genes to the biological...

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Bibliographic Details
Main Authors: Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
Format: Article
Language:English
Published: BMC 2018-02-01
Series:BMC Medical Genetics
Subjects:
Lynch syndrome
Gene panel testing
CHEK2
RNA splicing mutations
Online Access:http://link.springer.com/article/10.1186/s12881-018-0533-9

Internet

http://link.springer.com/article/10.1186/s12881-018-0533-9

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